41. Sotos TITLE Testicular yolk sac tumour in a patient with sotos syndrome. ABSTRACTThe cause of sotos syndrome is unknown but it usually occurs sporadically. http://www.indiana.edu/~pietsch/sotos.html

return to Shufflebrain main menu SOTOS SYNDROME Infantile Giantism, the recent scientific literature A search of MEDLINE conducted at Indiana University , Bloomington, Indiana web contact: pietsch@indiana.edu The following items were compiled from MEDLINE using SilverPlatter and are presented with the latter organization's generous co-operation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information Sotos syndrome infantile (cerebral) giantism is a pre- and post-natal condition of in which a child's head and muscles grow at abnormally rapid rates and become unusually large. The cause is unknown. Useful Links: NINDS (National Institutes of Health) NORD Sotos Support Group Record 1 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10 TITLE: Tumors and nontumors in Sotos syndrome [letter] AUTHOR(S): Cohen-MM Jr SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 May 21; 84(2): 173-5 INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299 PUBLICATION YEAR: 1999 LANGUAGE OF ARTICLE: ENGLISH COUNTRY OF PUBLICATION: UNITED-STATES MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Diagnosis,-Differential; Infant-; Nevus-diagnosis; Syndrome-

42. Indian Pediatrics - Editorial Abstract A case of cerebral gigantism (sotos syndrome) with West syndrome in a Cerebral Gigantism (sotos syndrome) is an uncommon syndrome of growth http://www.indianpediatrics.net/july2003/july-673-675.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2003; 40:673-675 Cerebral Gigantism with West Syndrome Munni Ray P. Malhi* A.K. Bhalla** P.D. Singhi From the Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Correspondence to: Dr. P.D. Singhi, Professor and Head, Neurodevelopment Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh 160 012, India. E-mail: medinst@pgi.chd.nic.in * Psychologist **Anthropologist Manuscript received: May 22, 2002; Initial review completed: July 18, 2002; Revision accepted: January 20, 2003. Abstract: A case of cerebral gigantism (Sotos syndrome) with West syndrome in a one year old male child is reported. The case had a large stature, typical facies and neurodevelopmental delay along with infantile spasms, which were refractory to treatment with valproate and clonazepam. Cerebral Gigantism (Sotos syndrome) is an uncommon syndrome of growth accelera-tion; macrocephaly, acromegaloid features and delay in neuropsychomotor development during infancy. Syndrome delineation and differential diagnosis are based on evaluation of phenotypic characteristics and evolutive history of patients. Extensive search of literature revealed only one reported case of Sotos syndrome with West syndrome till date(1). We hereby report another case of Sotos syndrome presenting with rare manifestation of West syndrome, the first such report from India.

43. Department Of Human Genetics - Clinical Laboratory And Patient Services Kurotaki et al., Haploinsufficiency of NSD1 causes sotos syndrome (2002) Nature Douglas et al., NSD1 mutations are the major cause of sotos syndrome and http://genes.uchicago.edu/clinic/SotosTest.html

Clinical Laboratory Services Sotos Syndrome Testing Thank you for your inquiry regarding NSD1 analysis for individuals with a clinical diagnosis of Sotos syndrome. Microdeletions, identifiable by FISH analysis, and mutations of the NSD1 gene have recently been identified in patients with Sotos syndrome1,2. These preliminary findings suggest that about 77% of patients with a clinical diagnosis of Sotos syndrome have either a deletion or mutation in the NSD1 gene. We offer FISH analysis for NSD1 deletion detection, as well as full mutation analysis by DHPLC and targeted sequencing. Sample submission paperwork and instructions are included with this packet. Please, send a completed Childhood Overgrowth Questionnaire with each sample. Sample specifications: FISH: 5 cc of blood in a green top/sodium heparin tube DHPLC: 7 cc of blood in a purple top/EDTA tube Turnaround time: FISH: 12 days DHPLC: 10-12 weeks Cost FISH: $325 DHPLC: $2500 CPT codes: FISH: 88230, 88271, 88291, 88273 DHPLC: 83891, 83898 (x10), 83903 (x10), 83904 (x2), 83912

44. Entrez PubMed Haploinsufficiency of NSD1 causes sotos syndrome. Kurotaki N, Imaizumi K, HaradaN, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, http://www.facultyof1000.com/pubmed/11896389

My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Mobile NLM Catalog NLM Gateway ... PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 1 Review: Nat Genet.

45. Faculty Of 1000 Biology | Haploinsufficiency Of NSD1 Causes Sotos Syndrome. Haploinsufficiency of NSD1 causes sotos syndrome. Kurotaki N, Imaizumi K, , NiikawaN, Matsumoto N Nat Genet 2002 Apr 30(4)3656 http://www.facultyof1000.com/article/11896389

Subscription Info Institutional Access Free Trial F1000 walkthrough ... About F1000 Haploinsufficiency of NSD1 causes Sotos syndrome. Kurotaki N, Imaizumi K, ..., Niikawa N, Matsumoto N Nat Genet 2002 Apr "This paper defines a new, recurrent and relatively frequent submicroscopic..." Evaluated by Faculty of 1000 Biology member Andrew Wilkie (John Radcliffe Hospital, United Kingdom) To see the full evaluation, choose from the options below: Faculty of 1000 Biology Essential, rapid post-publication evaluation of the most important papers in biology by over 1900 of the world's top scientists [see a sample evaluation You can: Customize the site and receive tailored e-mail alerts [ more "This is really going to help busy scientists find the gems amongst the mounds of rubble!" Keith Roberts (John Innes Centre, UK) Personal access Existing subscribers Log in here E-mail Password Free 7 day trial Subscribe Institutional access Recommend to your librarian 80% of the world's top institutions subscribe! Log in via Athens If you are registered and have trouble logging in, email us:

46. Sotos Syndrome NSD1 Mutations Are the Major Cause of sotos syndrome and Occur in Some Cases ofWeaver Syndrome but Are Rare in Other Overgrowth Phenotypes http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=473

47. Arquivos De Neuro-Psiquiatria - ABSTRACT sotos syndrome or cerebral gigantism is characterized by The mainclinical finding in sotos syndrome is prenatal and postnatal overgrowth. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000200009

48. Arquivos De Neuro-Psiquiatria - ABSTRACT sotos syndrome or cerebral gigantism is characterized by Bone ageis also significantly advanced in most cases of sotos syndrome, http://www.scielo.br/scielo.php?pid=S0004-282X2002000200009&script=sci_arttext&t

49. Sotos Syndrome - FISH Analysis The Kleberg Cytogenetics Laboratory offers a fluorescence in situhybridization (FISH)based assay for identifying the microdeletion of the NSD1gene (5q35) http://www.bcmgeneticlabs.org/tests/cyto/sotos.html

SOTOS SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletion of the gene (5q35) associated with Sotos syndrome. Clinical Features: Sotos syndrome is characterized by overgrowth in infancy and early childhood, dysmorphic facial features, advanced bone age and developmental delay. The dysmorphic features typically include macrocephaly, frontal bossing, prominent jaw and down-slanting palpebral fissures. The phenotype is variable, with some individuals having major cardiac, central nervous system and urinary system anomalies. Sotos syndrome is presumed to be autosomal dominant, with the majority of cases due to new mutations. Reasons for Referral: Patients with clinical features suggestive of Sotos syndrome may be tested for microdeletions of by FISH. Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and shown to have a deletion detectable by FISH.

50. Soto's Syndrome How is a Diagnosis of Soto Syndrome Made? sotos syndrome Support Association ofCanada (also in French); Other Syndromes or Disorders That are Related to http://www.noah-health.org/en/bns/disorders/other/soto.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Brain and Nervous System Change text size: Soto's Syndrome Updated: August 16, 2005 General Information Sotos Syndrome Support Association of Canada (also in French How is a Diagnosis of Soto Syndrome Made? Sotos Syndrome Support Association of Canada (also in French Other Syndromes or Disorders That are Related to Sotos Sotos Syndrome Support Association of Canada (also in French Sotos Syndrome Gene Reviews Soto's Syndrome Information Page National Institute of Neurological Disorders and Stroke Typical Physical Characteristics for People with Sotos Syndrome Sotos Syndrome Support Association of Canada (also in French Researched by NOAH Contributing Editor: NOAH Team NOAH Brain and Nervous System Specific Nervous System Disorders Other Neurological Problems > Soto's Syndrome Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

51. What Is Sotos Syndrome? - Healthfinder® This minifact sheet provides basic consumer information about this geneticdisorder, also known as cerebral gigantism because of the distinctive head shape http://mentalhealth.about.com/library/h/docs/bld02278.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a14' About Mental Health Resources Mental Health Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Mental Health Resources newsletter! See Online Courses Search Mental Health Resources What is Sotos Syndrome? internet URL http://www.well.com/user/sssa/whatisit.htm sponsoring agency Sotos Syndrome Support Association description This mini-fact sheet provides basic consumer information about this genetic disorder, also known as cerebral gigantism because of the distinctive head shape and size. Keywords: Cerebral Gigantism Children Consumer Resources From Leonard Holmes, Ph.D. Your Guide to Mental Health Resources FREE Newsletter. Sign Up Now! zau(256,420,100,'ri','http://z.about.com/5/o/c.htm?gs='+gs,'') Most Popular Video Bathroom Decoration Ideas Tag Sale Tips Creating a Craft Room Making a Personal Space ... See other videos at About.com Advertisement Most Popular MAO Inhibitors Cymbalta gets Mixed Reviews Video Game Violence Psychiatric Medications - Introduction, Antipsychotics

52. Sotos Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/SOTOS SYNDROME.a

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Sotos' syndrome, (Juan Fernandez Sotos, born 1927, Spanish-born American paediatrician), the association of mental retardation with poor motor co-ordination and behavioural problems, a large head and high birth weight, and rapid growth in height and weight. Radiologically, there is a large dolichocephalic skull, large hands and feet, and an advanced bone age. There may also be kyphoscoliosis. HC The Encyclopaedia of Medical Imaging Volume VII Corporate Products Financial Services Our Commitment ... Terms of Conditions

53. Resources For Genetic Counselors - Sotos Syndrome Ø characteristic facial appearance specific to sotos syndrome Gene mutationfound in a number of Japanese patients with sotos syndrome http://www.genesoc.com/counseling2/article153.html

Modules Home FAQ Feedback Forums ... Your Account Who's Online There are currently, 4 guest(s) and member(s) that are online. You are Anonymous user. You can register for free by clicking here Languages Select Interface Language: Albanian Arabic Brazilian Catala Chinese Czech Danish Dutch English Euskara Finnish French Galego German Greek Hungarian Icelandic Indonesian Italian Macedonian Norwegian Polish Portuguese Romanian Russian Slovak Slovenian Spanish Swedish Thai Turkish Ukrainian Vietnamese Login Nickname Password Security Code: Type Security Code Don't have an account yet? You can create one . As a registered user you have some advantages like theme manager, comments configuration and post comments with your name. Old Articles Thursday, February 10 VATER Association Turner Syndrome Tuberous Sclerosis Trisomy 18 ... Older Articles Sotos Syndrome Posted on Thursday, February 10 @ 00:02:24 CST by debi Sotos Syndrome Incidence: Diagnosis: o alters in childhood and adolescence o in newborn period (macrocephaly, high bossed forehead, dolichocephaly, high palate, appearance suggestive of hypertelorism) o face lengthens, jaw becomes more prominent, dolichocephaly (tall narrow skull) and frontal bossing (prominent forehead) become more obvious

54. Sotos Syndrome - St. Joseph Mercy, Ann Arbor Michigan sotos syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor, SEMichigan, Washtenaw County, Livingston County, Wayne County, Oakland County, http://www.sjmercyhealth.org/15673.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Sotos Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Sotos Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Cerebral Gigantism Disorder Subdivisions None General Discussion Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 TDD: (914)997-4764 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910 Tel: (301)565-3842 Fax: (301)565-3843 Tel: (800)433-5255 TDD: (817)277-0553 Email: info@thearc.org

55. Spine - UserLogin sotos syndrome, a rare overgrowth syndrome with slightly more than 300 cases A previously unreported cervical spine instability in sotos syndrome is http://www.spinejournal.com/pt/re/spine/fulltext.00007632-200404010-00023.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt02 Release 4.0

56. Spine - Abstract: Volume 29(7) April 1, 2004 P E153-E156 Cervical Instability In Cervical Instability in sotos syndrome A Case Report. sotos syndrome, a rareovergrowth syndrome with slightly more than 300 cases reported in the http://www.spinejournal.com/pt/re/spine/abstract.00007632-200404010-00023.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive Cervical Instability in Sotos Syndrome:... ARTICLE LINKS: Fulltext PDF (430 K) Permissions Cervical Instability in Sotos Syndrome: A Case Report. Spine. 29(7):E153-E156, April 1, 2004. Carlo, Waldemar BA *; Dormans, John P. MD + Abstract: Study Design. A case report on cervical instability detected in a patient with Sotos syndrome, along with a review of the literature on Sotos syndrome and associated spinal findings. Objective. To present the case of a patient with a C3-C4 anterolisthesis occurring in the setting of Sotos syndrome and explore a possible association between the two. Summary of Background Data. Sotos syndrome, a rare overgrowth syndrome with slightly more than 300 cases reported in the English literature to date, is characterized by a unique constellation of symptoms and signs including musculoskeletal findings such as scoliosis, pes planus, generalized ligamentous laxity, and increased growth rates. Cervical instability as part of this syndrome is unreported and rarely presents as a C3-C4 anterolisthesis. Methods. A case report detailing the evaluation and treatment of a cervical instability in a 3-year-old with Sotos syndrome.

57. GeneReviews: Sotos Syndrome Your browser does not support HTML frames so you must view sotos syndrome in aslightly less readable form. Please follow this link to do so. http://genetests.org/profiles/sotos/

Your browser does not support HTML frames so you must view Sotos Syndrome in a slightly less readable form. Please follow this link to do so.

58. Child Growth Foundation Sotos Two of these conditions are Marfan syndrome and sotos syndrome. sotos syndrome,or gigantism, usually presents in early childhood. http://www.childgrowthfoundation.org/Sotos.htm

Child Growth Foundation 2 Mayfield Avenue, Chiswick London W4 1P W Registered Charity No: 274325 About CGF CGF History Members Information Useful Contacts ... Growth Conditions Tall Stature TALL STATURE Children with tall stature, i.e. above the 99.6 th centile, are usually so because of genetic reasons - they simply have tall parents! This is referred to as constitutional tall stature. However, tall stature may also be associated with various paediatric syndromes that require specialist assessment. Two of these conditions are Marfan syndrome and Sotos syndrome. Constitutional tall stature Tall stature in childhood usually presents less initial concern than short stature because, at least in early childhood, being tall can be advantageous. However, excessive tall stature can cause problems, particularly at school. It may be difficult to remember that a five-year old child who has the stature of an eight-year-old only has the educational and emotional development of a five-year old. Their size can seem inappropriate for their classroom peers and so very tall children may be labelled as clumsy or aggressive. Other treatments that reduce growth hormone secretion are being evaluated through clinical trials. As a final option, a surgical reduction of leg length is a possibility.

59. Clinical Dysmorphology - Abstract: Volume 13(4) October 2004 P 199-204 Clinical In this review we will present the clinical features of sotos syndrome cases withproven This has allowed redefinition of sotos syndrome as a condition http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200410000-00001.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive Clinical features of NSD1-positive... ARTICLE LINKS: Fulltext PDF (149 K) Permissions Clinical features of NSD1-positive Sotos syndrome. Clinical Dysmorphology. 13(4):199-204, October 2004. Tatton-Brown, Katrina; Rahman, Nazneen Abstract: Subscribe to RSS feed utrdc-pt02 Release 4.0

60. Clinical Dysmorphology - UserLogin Two patients with sotos syndrome who developed a severe scoliosis are described . sotos syndrome is characterized by early overgrowth and characteristic http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200204000-00009.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt02 Release 4.0

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 97    Back | 1  | 2  | 3  | 4  | 5  | Next 20